COQ8B
Coenzyme Q8B, a mitochondrial kinase essential for coenzyme Q10 biosynthesis
Gene Information Card
| Symbol | COQ8B |
|---|---|
| Full Name | Coenzyme Q8B |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.2 |
| NCBI Gene ID | 79934 ncbi.nlm.nih.gov/gene/79934 |
| Ensembl ID | ENSG00000104879 |
| UniProt ID | Q8NI60 |
| OMIM ID | 615567 |
| HGNC ID | 25782 |
| Aliases | ADCK4, COQ10D6, bA9819.1 |
Description
COQ8B (coenzyme Q8B) encodes a mitochondrial protein kinase that phosphorylates and regulates enzymes in the coenzyme Q10 (CoQ10) biosynthesis pathway. Mutations in COQ8B cause primary CoQ10 deficiency, leading to steroid-resistant nephrotic syndrome (SRNS) and other mitochondrial disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary coenzyme Q10 deficiency 6 (COQ10D6) | Loss-of-function mutations impair CoQ10 biosynthesis, reducing mitochondrial electron transport chain activity and causing oxidative stress | OMIM #615567 |
| Steroid-resistant nephrotic syndrome (SRNS) | COQ8B mutations disrupt podocyte mitochondrial function, leading to glomerular basement membrane damage and proteinuria | ClinVar, PMID: 24836131 |
| Focal segmental glomerulosclerosis (FSGS) | Secondary to CoQ10 deficiency, resulting in podocyte injury and progressive kidney disease | ClinVar, PMID: 24836131 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Liver | 8.3 | Medium |
| Heart | 6.7 | Low |
| Skeletal muscle | 5.1 | Low |
| Brain | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression |
| HepG2 | 10.8 | Moderate expression |
| K562 | 3.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.748C>T (p.Arg250*) | Nonsense | Rare | Loss of function; truncates protein, causing CoQ10 deficiency |
| c.737G>A (p.Arg246Gln) | Missense | Rare | Impaired kinase activity; reduces CoQ10 synthesis |
| c.1045C>T (p.Arg349Trp) | Missense | Rare | Disrupts mitochondrial localization; associated with SRNS |
Mutation functional classification
Loss of Function (LOF)
Most COQ8B mutations are loss-of-function, reducing or abolishing kinase activity and CoQ10 biosynthesis.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • Mitochondrion | • Protein kinase activity |
| • Coenzyme Q10 biosynthetic process | • ATP binding |
| • Mitochondrial inner membrane |
Pathways
• Coenzyme Q10 biosynthesis (KEGG: hsa00130)
• Mitochondrial electron transport chain (Reactome: R-HSA-611105)
Protein Summary
COQ8B is a mitochondrial protein kinase of 647 amino acids, localized to the inner mitochondrial membrane. It phosphorylates COQ3, COQ5, and other CoQ biosynthetic enzymes, regulating CoQ10 production. Defects cause CoQ10 deficiency, leading to mitochondrial dysfunction and kidney disease.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| COQ8B Knockout HEK293 Cell Line | EDJ-KQ2356 | Human | 79934 | Details Get a Quote |
| COQ8B Knockout A-549 Cell Line | EDJ-KQ22790 | Human | 79934 | Details Get a Quote |
| COQ8B Knockout HCT 116 Cell Line | EDJ-KQ22791 | Human | 79934 | Details Get a Quote |
| COQ8B Knockout HeLa Cell Line | EDJ-KQ22792 | Human | 79934 | Details Get a Quote |
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